Variant report

Variant	esv3692791
Chromosome Location	chr1:98038091-98041720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98035531..98037801-chr1:98038552..98041185,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2248658	chr1:98038091-98038092	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574233912	chr1:98038097-98038098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374802821	chr1:98038134-98038135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4949958	chr1:98038179-98038180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186560085	chr1:98038216-98038217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557245222	chr1:98038269-98038270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189496622	chr1:98038278-98038279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545699700	chr1:98038299-98038300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149512109	chr1:98038309-98038310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143999580	chr1:98038343-98038344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540670247	chr1:98038350-98038351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560638480	chr1:98038478-98038479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529771359	chr1:98038480-98038481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74939731	chr1:98038515-98038516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376833459	chr1:98038578-98038579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563522735	chr1:98038580-98038581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17116957	chr1:98038588-98038589	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373001422	chr1:98038597-98038598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72732328	chr1:98038601-98038602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114039816	chr1:98038627-98038628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534182459	chr1:98038628-98038629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72732329	chr1:98038639-98038640	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575362879	chr1:98038741-98038742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567746673	chr1:98038754-98038755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577491787	chr1:98038815-98038816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540071772	chr1:98038827-98038828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536781414	chr1:98038878-98038879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79917705	chr1:98038926-98038927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576587501	chr1:98038968-98038969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538914592	chr1:98039000-98039001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573419579	chr1:98039013-98039014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112018741	chr1:98039023-98039024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140754360	chr1:98039035-98039036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144615509	chr1:98039062-98039063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540607582	chr1:98039085-98039086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560575124	chr1:98039120-98039121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574164180	chr1:98039159-98039160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369708895	chr1:98039261-98039262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112753239	chr1:98039263-98039264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200644426	chr1:98039287-98039288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375966416	chr1:98039304-98039305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200709381	chr1:98039318-98039319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186169810	chr1:98039341-98039342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370569731	chr1:98039348-98039349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142512579	chr1:98039361-98039362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200693895	chr1:98039375-98039376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532341730	chr1:98039383-98039384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200064537	chr1:98039395-98039396	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141370079	chr1:98039401-98039402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56038477	chr1:98039419-98039420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97976600-98054200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:97976800-98051400	Weak transcription	Left Ventricle	heart
3	chr1:97998600-98063800	Weak transcription	Right Ventricle	heart
4	chr1:97999400-98064600	Weak transcription	Psoas Muscle	Psoas
5	chr1:97999400-98074000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:98001200-98062400	Weak transcription	Fetal Lung	lung
7	chr1:98002000-98054600	Weak transcription	Lung	lung
8	chr1:98002000-98069400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:98002800-98058800	Weak transcription	Gastric	stomach
10	chr1:98004400-98058400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:98006400-98040600	Weak transcription	Pancreas	Pancrea
12	chr1:98007800-98058400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:98007800-98075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:98009800-98076800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:98009800-98112200	Weak transcription	HSMM	muscle
16	chr1:98012000-98054200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:98013400-98048600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:98013600-98058800	Weak transcription	Esophagus	oesophagus
19	chr1:98015200-98040200	Weak transcription	HSMMtube	muscle
20	chr1:98015200-98047000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:98015200-98054000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:98015200-98058600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:98015200-98062000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:98015400-98038800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:98015600-98058600	Weak transcription	Osteobl	bone
26	chr1:98018400-98040400	Weak transcription	Small Intestine	intestine
27	chr1:98020000-98059000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:98020000-98060600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:98023200-98041000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:98023200-98045400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:98023800-98053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:98024400-98039200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:98025200-98046600	Weak transcription	Thymus	Thymus
34	chr1:98026000-98051400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:98026600-98039400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:98026600-98051200	Weak transcription	Primary B cells from cord blood	blood
37	chr1:98028000-98039200	Weak transcription	NHLF	lung
38	chr1:98028800-98054200	Weak transcription	Ovary	ovary
39	chr1:98033000-98039600	Strong transcription	Liver	Liver
40	chr1:98033200-98039000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:98034200-98047000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:98035200-98039600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:98035400-98039800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:98036400-98039800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:98036600-98038400	Weak transcription	NHDF-Ad	bronchial
46	chr1:98036800-98064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:98037000-98038200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:98037200-98039800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:98037200-98060600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:98037400-98039600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links